MCID: PNM010
MIFTS: 31

Pneumothorax, Primary Spontaneous malady

Genetic diseases, Rare diseases, Respiratory diseases categories

Summaries for Pneumothorax, Primary Spontaneous

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Genetics Home Reference:21 Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emphysema. Spontaneous means the pneumothorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely due to the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. Air in the pleural space creates pressure on the lung and can lead to its collapse. A person with this condition may feel chest pain on the side of the collapsed lung and shortness of breath.

MalaCards based summary: Pneumothorax, Primary Spontaneous, also known as primary spontaneous pneumothorax, is related to birt-hogg-dube syndrome and catamenial pneumothorax, and has symptoms including autosomal dominant inheritance, pneumothorax and incomplete penetrance. An important gene associated with Pneumothorax, Primary Spontaneous is BHD (Beukes familial hip dysplasia). The drug talc has been mentioned in the context of this disorder. Affiliated tissues include colon, lung and skin.

OMIM:45 Birt-Hogg-Dube syndrome (BHD; 135150) is an allelic disorder characterized by spontaneous pneumothorax, as well as... (173600) more...

Aliases & Classifications for Pneumothorax, Primary Spontaneous

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Pneumothorax, Primary Spontaneous, Aliases & Descriptions:

Name: Pneumothorax, Primary Spontaneous 45 10 60
Primary Spontaneous Pneumothorax 21 22
Spontaneous Pneumothorax 21 60
 
Pneumothorax 21 60
Psp 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Respiratory diseases


External Ids:

OMIM45 173600

Related Diseases for Pneumothorax, Primary Spontaneous

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Diseases in the Spontaneous Pneumothorax family:

pneumothorax, primary spontaneous Spontaneous Pneumothorax Familial Type

Diseases related to Pneumothorax, Primary Spontaneous via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 203)
idRelated DiseaseScoreTop Affiliating Genes
1birt-hogg-dube syndrome30.8FLCN
2catamenial pneumothorax10.9
3spontaneous pneumothorax10.7
4pneumothorax10.6
5supranuclear palsy, progressive10.6
6endometriosis10.6
7spontaneous tension pneumothorax10.5
8pulmonary edema10.5
9tuberculosis10.5
10lymphangioleiomyomatosis10.5
11pneumonia10.4
12miliary tuberculosis10.4
13interstitial emphysema10.4
14silicosis10.3
15tuberculous pneumothorax10.3
16blastoma10.3
17bronchiolitis10.3
18histiocytosis10.3
19sarcoma10.3
20bronchiolitis obliterans10.3
21langerhans-cell histiocytosis10.3
22mediastinitis10.3
23spontaneous pneumothorax familial type10.3
24pleuropulmonary blastoma10.2
25marfan syndrome10.2
26hemopneumothorax10.2
27horner's syndrome10.2
28bronchopneumonia10.2
29corticobasal degeneration10.2
30progressive supranuclear palsy - parkinsonism10.2
31aspergillosis10.2
32lung cancer10.2
33pulmonary fibrosis10.2
34adenocarcinoma10.2
35eosinophilia10.2
36interstitial lung disease10.2
37respiratory failure10.2
38bronchogenic cyst10.2
39mesothelioma10.2
40dementia, frontotemporal10.1
41supranuclear palsy, progressive atypical10.1
42root resorption10.1
43pancreatitis10.1
44progressive supranuclear palsy - progressive non fluent aphasia10.1
45progressive supranuclear palsy - corticobasal syndrome10.1
46progressive supranuclear palsy - pure akinesia with gait freezing10.1
47asthma10.1
48pulmonary function10.1
49cystic fibrosis10.1
50myocardial infarction10.1

Graphical network of the top 20 diseases related to Pneumothorax, Primary Spontaneous:



Diseases related to pneumothorax, primary spontaneous

Symptoms for Pneumothorax, Primary Spontaneous

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Symptoms by clinical synopsis from OMIM:

173600

Clinical features from OMIM:

173600

HPO human phenotypes related to Pneumothorax, Primary Spontaneous:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 pneumothorax HP:0002107
3 incomplete penetrance HP:0003829

Drugs & Therapeutics for Pneumothorax, Primary Spontaneous

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Drug clinical trials:

Search ClinicalTrials for Pneumothorax, Primary Spontaneous

Search NIH Clinical Center for Pneumothorax, Primary Spontaneous

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Pneumothorax, Primary Spontaneous

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Genetic tests related to Pneumothorax, Primary Spontaneous:

id Genetic test Affiliating Genes
1 Pneumothorax, Primary Spontaneous22

Anatomical Context for Pneumothorax, Primary Spontaneous

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MalaCards organs/tissues related to Pneumothorax, Primary Spontaneous:

31
Colon, Lung, Skin

Animal Models for Pneumothorax, Primary Spontaneous or affiliated genes

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Publications for Pneumothorax, Primary Spontaneous

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Variations for Pneumothorax, Primary Spontaneous

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UniProtKB/Swiss-Prot genetic disease variations for Pneumothorax, Primary Spontaneous:

62
id Symbol AA change Variation ID SNP ID
1FLCNp.Glu132LysVAR_066024
2FLCNp.His429TyrVAR_066028

Clinvar genetic disease variations for Pneumothorax, Primary Spontaneous:

6
id Gene Variation Type Significance SNP ID Assembly Location
1FLCNNM_144997.5(FLCN): c.1285dupC (p.His429Profs)duplicationPathogenicrs80338682GRCh37Chr 17, 17119708: 17119709
2FLCNFLCN, 4-BP DEL, 235TCGGdeletionPathogenic
3FLCNFLCN, 4-BP DEL, 1533GATGdeletionPathogenic
4FLCNFLCN, 1-BP DEL, 404CdeletionPathogenic
5FLCNFLCN, 3-BP DEL, 469TTCdeletionPathogenic
6FLCNFLCN, 20-BP DEL, NT1156deletionPathogenic
7FLCNFLCN, EX9-14 DELdeletionPathogenic

Expression for genes affiliated with Pneumothorax, Primary Spontaneous

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Search GEO for disease gene expression data for Pneumothorax, Primary Spontaneous.

Pathways for genes affiliated with Pneumothorax, Primary Spontaneous

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Compounds for genes affiliated with Pneumothorax, Primary Spontaneous

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GO Terms for genes affiliated with Pneumothorax, Primary Spontaneous

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Products for genes affiliated with Pneumothorax, Primary Spontaneous

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Sources for Pneumothorax, Primary Spontaneous

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet